Deflazacort TREATment in LMNA related congenital muscular dystrophy: study of clinical effectiveness and search for reliable biomarkers.

Deflazacort TREATment in LMNA related congenital muscular dystrophy: study of clinical effectiveness and search for reliable biomarkers. - TREAT-LMNA

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2019-004426-24-IT

Enrollment

Registered

2021-06-15

Start date

2020-07-06

Completion date

Unknown

Last updated

2024-12-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital Muscolar distrophy LMNA related MedDRA version: 20.0 Level: LLT Classification code 10003718 Term: Atrophy skeletal muscle System Organ Class: 100000004859

Interventions

Product Name: Deflazacort Product Code: [Deflazacort] Pharmaceutical Form: Oral drops, solution INN or Proposed INN: deflazacort Current Sponsor code: deflazacort Concentration unit: mg milligram(s) C

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Corticosteroid-naive patients, aged between 3 and 40 years of both sexes and of Caucasian origin, with clinical and genetic diagnosis of L-CMD or EDMD2 with an onset age before 5 years. • Patients will be eligible if at the time of recruitment they are able to provide reproducible measurements of forced vital capacity (FVC) (variability =65 years) no F.1.3.1 Number of subjects for this age range

Exclusion criteria

Exclusion criteria: Exclusion criteria • Hypersensitivity to the active substance or to any of the excipients • Chronic therapy with corticosteroids or immunosuppressive drugs • Diabetes mellitus or other comorbidities which strongly contraindicate the use of corticosteroids • Pregnancy and breastfeeding.

Design outcomes

Primary

Measure	Time frame
Main Objective: The primary objectives of the study will be: 1. Evaluation of the effect of therapy with Deflazacort drops 0.9 mg / kg / day on clinical outcome and secretoma in adult and pediatric patients with L-CMD. 2. Evaluation of the safety and tolerability of the treatment with Deflazacort drops 0.9 mg / kg / day;Secondary Objective: The secondary objective will be to study in vitro whether LCMD specific secreted molecules influence myogenic differentiation and fibrosis in normal human myoblasts in culture, thus validating these molecules as biomarkers in L-CMD.;Primary end point(s): 1. Safety evaluation of the administration of Deflazacort drops (0.9mg / kg / day) 2. Evaluation of the effects of treatment with Deflazacort drops (0.9mg / kg / day in relation to the change of clinical parameters at each treatment time and follow up (T0-T6-T12-T15-T18). For subgroup 1, the primary clinical outcome variable will be chosen as a three-dimensional (multivariate) outcome consisting of the following three components: • relaxation time • FVC • motor measurement (MFM) For subgroup 2, the primary clinical outcome variable will be: • FVC • motor measurement (MFM);Timepoint(s) of evaluation of this end point: 18 mesi	—

Measure

Time frame

Main Objective: The primary objectives of the study will be: 1. Evaluation of the effect of therapy with Deflazacort drops 0.9 mg / kg / day on clinical outcome and secretoma in adult and pediatric patients with L-CMD. 2. Evaluation of the safety and tolerability of the treatment with Deflazacort drops 0.9 mg / kg / day;Secondary Objective: The secondary objective will be to study in vitro whether LCMD specific secreted molecules influence myogenic differentiation and fibrosis in normal human myoblasts in culture, thus validating these molecules as biomarkers in L-CMD.;Primary end point(s): 1. Safety evaluation of the administration of Deflazacort drops (0.9mg / kg / day) 2. Evaluation of the effects of treatment with Deflazacort drops (0.9mg / kg / day in relation to the change of clinical parameters at each treatment time and follow up (T0-T6-T12-T15-T18). For subgroup 1, the primary clinical outcome variable will be chosen as a three-dimensional (multivariate) outcome consisting of the following three components: • relaxation time • FVC • motor measurement (MFM) For subgroup 2, the primary clinical outcome variable will be: • FVC • motor measurement (MFM);Timepoint(s) of evaluation of this end point: 18 mesi

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Secondary

Measure	Time frame
Secondary end point(s): Secondary outcome variables will include the following continuous variables, calculated on average for all post-baseline follow-up visits: Time to run / walk 10 m (subgroup 1); • distance traveled in 6 minutes (subgroup 1); • range of motion in the ankle, elbow and knee joints (subgroup 1 and 2); • cardiac function (measured by transthoracic echocardiography and 12-lead ECG) (subgroup 1 and 2);;Timepoint(s) of evaluation of this end point: 18 mesi	—

Measure

Time frame

Secondary end point(s): Secondary outcome variables will include the following continuous variables, calculated on average for all post-baseline follow-up visits: Time to run / walk 10 m (subgroup 1); • distance traveled in 6 minutes (subgroup 1); • range of motion in the ankle, elbow and knee joints (subgroup 1 and 2); • cardiac function (measured by transthoracic echocardiography and 12-lead ECG) (subgroup 1 and 2);;Timepoint(s) of evaluation of this end point: 18 mesi

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Countries

Italy

Contacts

Public ContactU.O. Farmacologia Clinica e Farmaco

Azienda Ospedaliero - Universitaria Pisana

v.gori@ao-pisa.toscana.it050993570

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026